檢索結果 - Kelly Schoch

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  1. 1
    Exome/Genome Sequencing in Undiagnosed Syndromes

    Exome/Genome Sequencing in Undiagnosed Syndromes 由 Jennifer A. Sullivan, Kelly Schoch, Rebecca C. Spillmann, Vandana Shashi

    出版 2023
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  2. 2
    The importance of dynamic re-analysis in diagnostic whole exome sequencing

    The importance of dynamic re-analysis in diagnostic whole exome sequencing 由 Anna C. Need, Vandana Shashi, Kelly Schoch, Slavé Petrovski, David B. Goldstein

    出版 2016
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    Carta
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  3. 3
    A longitudinal examination of the psychoeducational, neurocognitive, and psychiatric functioning in children with 22q11.2 deletion syndrome

    A longitudinal examination of the psychoeducational, neurocognitive, and psychiatric functioning in children with 22q11.2 deletion syndrome 由 Stephen R. Hooper, Kathleen Curtiss, Kelly Schoch, Matcheri S. Keshavan, Andrew S. Allen, Vandana Shashi

    出版 2013
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  4. 4
    Clinical application of exome sequencing in undiagnosed genetic conditions

    Clinical application of exome sequencing in undiagnosed genetic conditions 由 Anna C. Need, Vandana Shashi, Yuki Hitomi, Kelly Schoch, Kevin V. Shianna, Marie McDonald, Miriam H. Meisler, David B. Goldstein

    出版 2012
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  5. 5
    Social cognitive training in adolescents with chromosome 22q11.2 deletion syndrome: feasibility and preliminary effects of the intervention

    Social cognitive training in adolescents with chromosome 22q11.2 deletion syndrome: feasibility and preliminary effects of the intervention 由 Vandana Shashi, Waverly Harrell, Shaun M. Eack, Courtney Sanders, Allyn McConkie‐Rosell, Matcheri S. Keshavan, Melanie J. Bonner, Kelly Schoch, Stephen R. Hooper

    出版 2015
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  6. 6
    Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?

    Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing? 由 Allyn McConkie‐Rosell, Stephen R. Hooper, Loren Peña, Kelly Schoch, Rebecca C. Spillmann, Yong‐Hui Jiang, Heidi Cope, Christina G.S. Palmer, Vandana Shashi

    出版 2018
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  7. 7
    The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

    The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders 由 Vandana Shashi, Allyn McConkie‐Rosell, Bruce Rosell, Kelly Schoch, Kasturi Vellore, Marie McDonald, Yong‐hui Jiang, Pingxing Xie, Anna C. Need, David B. Goldstein

    出版 2013
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  8. 8
    A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

    A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network 由 Rebecca C. Spillmann, Allyn McConkie‐Rosell, Loren Peña, Yong‐Hui Jiang, Kelly Schoch, Sophie Nicole, Camilla Sanders, Jennifer A. Sullivan, Stephen R. Hooper, Vandana Shashi

    出版 2017
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  9. 9
    Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders

    Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders 由 Allyn McConkie Rosell, Loren Peña, Kelly Schoch, Rebecca C. Spillmann, Jennifer A. Sullivan, Stephen R. Hooper, Yong‐hui Jiang, Nicolas Mathey‐Andrews, David B. Goldstein, Vandana Shashi

    出版 2016
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  10. 10
    Annotating pathogenic non-coding variants in genic regions

    Annotating pathogenic non-coding variants in genic regions 由 Sahar Gelfman, Quanli Wang, K. Melodi McSweeney, Zhong Ren, Francesca La Carpia, Matthew Halvorsen, Kelly Schoch, Fanni Ratzon, Erin L. Heinzen, Michael J. Boland, Slavé Petrovski, David B. Goldstein

    出版 2017
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  11. 11
    ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis

    ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis 由 Cole A. Deisseroth, Johannes Birgmeier, Ethan E. Bodle, Jennefer N. Kohler, Dena R. Matalon, Yelena Nazarenko, Casie A. Genetti, Donna M. Brown, Klaus Schmitz‐Abe, Kelly Schoch, Heidi Cope, Rebecca Signer, Julián A. Martínez-Agosto, Vandana Shashi, Alan H. Beggs, Matthew T. Wheeler, Jonathan A. Bernstein, Gill Bejerano

    出版 2018
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  12. 12
    Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

    Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios 由 Xiaolin Zhu, Slavé Petrovski, Pingxing Xie, Elizabeth K. Ruzzo, Yifan Lu, K. Melodi McSweeney, Bruria Ben‐Zeev, Andreea Nissenkorn, Yair Anikster, Danit Oz-Levi, Ryan S. Dhindsa, Yuki Hitomi, Kelly Schoch, Rebecca C. Spillmann, Gali Heimer, Dina Marek‐Yagel, Michal Tzadok, Yujun Han, Gordon Worley, Jennifer Goldstein, Yong‐hui Jiang, Doron Lancet, Elon Pras, Vandana Shashi, Duncan McHale, Anna C. Need, David B. Goldstein

    出版 2015
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  13. 13
    Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

    Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder 由 Ning Liu, Kelly Schoch, Xi Luo, Loren D.M. Peña, Venkata Hemanjani Bhavana, Mary K. Kukolich, Sarah Stringer, Zöe Powis, Kelly Radtke, Cameron Mroske, Kristen Deak, Marie McDonald, Allyn McConkie‐Rosell, M. Louise Markert, Peter G. Kranz, Nicholas Stong, Anna C. Need, David Bick, Michelle D. Amaral, Elizabeth A. Worthey, Shawn Levy, Michael F. Wangler, Hugo J. Bellen, Vandana Shashi, Shinya Yamamoto

    出版 2018
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  14. 14
    Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing

    Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing 由 Chloe M. Reuter, Jennefer N. Kohler, Devon Bonner, Diane B. Zastrow, Liliana Fernández, Annika M. Dries, Shruti Marwaha, Jean M. Davidson, Elly Brokamp, Matthew Herzog, Joyce Hong, Ellen F. Macnamara, Jill A. Rosenfeld, Kelly Schoch, Rebecca C. Spillmann, Joseph Loscalzo, Joel B. Krier, Joan M. Stoler, David A. Sweetser, Christina G.S. Palmer, John A. Phillips, Vandana Shashi, David A. Adams, Yaping Yang, Euan A. Ashley, Paul G. Fisher, John J. Mulvihill, Jonathan A. Bernstein, Matthew T. Wheeler

    出版 2019
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  15. 15
    Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

    Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway 由 Gregory M. Enns, Vandana Shashi, Matthew N. Bainbridge, Michael J. Gambello, Farah Zahir, Thomas Bast, Rebecca Crimian, Kelly Schoch, Julia Platt, Rachel Cox, Jonathan A. Bernstein, Mena Scavina, Rhonda S. Walter, Audrey Bibb, Melanie A. Jones, Madhuri Hegde, Brett H. Graham, Anna C. Need, Angélica Oviedo, Christian P. Schaaf, Seán Boyle, Atul J. Butte, Rong Chen, Michael J. Clark, Rajini Haraksingh, Tina M. Cowan, Ping He, Sylvie Langlois, Huda Y. Zoghbi, M Snyder, Richard A. Gibbs, Hudson H. Freeze, David B. Goldstein

    出版 2014
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  16. 16
    De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

    De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype 由 Vandana Shashi, Loren D.M. Peña, Katherine Kim, Barbara K. Burton, Maja Hempel, Kelly Schoch, Magdalena Walkiewicz, Heather M. McLaughlin, Megan Cho, Nicholas Stong, Scott E. Hickey, Christine Shuss, Michael Freemark, Jane S. Bellet, Martha Ann Keels, Melanie J. Bonner, Maysantoine A. El-Dairi, Megan W. Butler, Peter G. Kranz, Constance T. R. M. Stumpel, Sylvia Klinkenberg, Karin Oberndorff, Malik Alawi, René Santer, Slavé Petrovski, Outi Kuismin, Satu Korpi-Heikkilä, Olli Pietiläinen, Aarno Palotie, Mitja Kurki, Alexander Hoischen, Anna C. Need, David B. Goldstein, Fanny Kortüm, A. Bacino, Brendan Lee, Ashok Balasubramanyam, Lindsay C. Burrage, Gary Clark, William J. Craigen, Shweta U. Dhar, Lisa Emrick, Brett H. Graham, Mahim Jain, Seema R. Lalani, Richard A. Lewis, Paolo Moretti, Sarah K. Nicholas, Jordan S. Orange, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Daryl A. Scott, Neil A. Hanchard, Tran A. Alyssa, Alejandro E. Mercedes, Azamian S. Mashid, Hugo J. Bellen, Shinya Yamamoto, Michael F. Wangler, Monte Westerfield, John H. Postlethwait, Christine M. Eng, Yaping Yang, Donna M. Muzny, Patricia A. Ward, Rachel Ramoni, Alexa T. McCray, Issac S. Kohane, Ingrid A. Holm, Matthew Might, Paul Mazur, Kimberly Splinter, Cecilia Esteves, Vandana Shashi, Yong‐hui Jiang, Loren D.M. Peña, Allyn McConkie‐Rosell, Kelly Schoch, Rebecca C. Spillmann, Jennifer A. Sullivan, Sophie Nicole, David B. Goldstein, Nicholas Stong, Alan H. Beggs, Joseph Loscalzo, Calum A. MacRae, Edwin K. Silverman, Joan M. Stoler, David A. Sweetser, Richard L. Maas, Joel B. Krier, Lance H. Rodan, Chris A. Walsh, Cynthia M. Cooper, J. Carl Pallais, Laurel A. Donnell‐Fink, Elizabeth L. Krieg, Sharyn A. Lincoln, Lauren C. Briere

    出版 2016
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  17. 17
    A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

    A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay 由 Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David Bearden, Asbjørg Stray‐Pedersen, Øyvind L. Busk, Nicholas Stong, Eriskay Liston, Ronald D. Cohn, Fernando Scaglia, Jill A. Rosenfeld, Jennifer Tarpinian, Cara Skraban, Matthew A. Deardorff, Jeremy Friedman, Zeynep Coban‐Akdemir, Sophie Nicole, Mohamad A. Mikati, Peter G. Kranz, Joan Jasien, Allyn McConkie‐Rosell, Marie McDonald, Stephanie Burns Wechsler, Michael Freemark, Sujay Kansagra, Sharon F. Freedman, Deeksha Bali, Francisca Millan, Sherri J. Bale, Stanley F. Nelson, Hane Lee, Naghmeh Dorrani, David B. Goldstein, Rui Xiao, Yaping Yang, Jennifer E. Posey, Julian A. Martínez‐Agosto, James R. Lupski, Michael F. Wangler, Vandana Shashi, Stanley F. Nelson, Wayne W. Grody, Hane Lee, Samuel P. Strom, Éric Vilain, Joshua L. Deignan, Fabiola Quintero‐Rivera, Sibel Kantarci, Naghmeh Dorrani, Sureni V. Mullegama, Sung‐Hae Kang, Szabolcs Szelinger, Mercedes E. Alejandro, Carlos A. Bacino, Ashok Balasubramanyam, Lindsay C. Burrage, Gary Clark, William J. Craigen, Shweta U. Dhar, Lisa Emrick, Brett H. Graham, Neil A. Hanchard, Mahim Jain, Seema R. Lalani, Brendan Lee, Richard A. Lewis, Azamian S. Mashid, Paolo Moretti, Sarah K. Nicholas, Jordan S. Orange, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Daryl A. Scott, Alyssa A. Tran, Hugo J. Bellen, Michael F. Wangler, Shinya Yamamoto, Christine M. Eng, Donna M. Muzny, Patricia A. Ward, Yaping Yang, Andrea Gropman, David B. Goldstein, Nicholas Stong, Yong‐hui Jiang, Allyn McConkie‐Rosell, Loren D.M. Peña, Kelly Schoch, Vandana Shashi, Rebecca C. Spillmann, Jennifer A. Sullivan, Sophie Nicole, Alan H. Beggs, Lauren C. Briere, Cynthia M. Cooper, Laurel A. Donnell‐Fink, Elizabeth L. Krieg, Joel B. Krier, Sharyn A. Lincoln

    出版 2017
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  18. 18
    Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

    Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases 由 Loren D.M. Peña, Yong‐Hui Jiang, Kelly Schoch, Rebecca C. Spillmann, Sophie Nicole, Nicholas Stong, Sarah R. Horn, Jennifer A. Sullivan, Allyn McConkie‐Rosell, Sujay Kansagra, Edward C. Smith, Mays El-Dairi, Jane S. Bellet, Martha Ann Keels, Joan Jasien, Peter G. Kranz, Richard J. Noel, Shashi Nagaraj, Robert K. Lark, Daniel S. Wechsler, Daniela del Gaudio, Marco L. Leung, Laura G. Hendon, Collette C. Parker, Kelly L. Jones, David B. Goldstein, Vandana Shashi, Mercedes E. Alejandro, Carlos A. Bacino, Ashok Balasubramanyam, Bret L. Bostwick, Lindsay C. Burrage, Shan Chen, Gary Clark, William J. Craigen, Shweta U. Dhar, Lisa Emrick, Brett H. Graham, Neil A. Hanchard, Mahim Jain, Seema R. Lalani, Brendan Lee, Richard A. Lewis, Mahshid S. Azamian, Paolo Moretti, Sarah K. Nicholas, Jordan S. Orange, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Susan L. Samson, Daryl A. Scott, Alyssa A. Tran, Tiphanie P. Vogel, Jing Zhang, Hugo J. Bellen, Michael F. Wangler, Shinya Yamamoto, Christine M. Eng, Donna M. Muzny, Patricia A. Ward, Yaping Yang, David B. Goldstein, Nicholas Stong, Yong‐hui Jiang, Allyn McConkie‐Rosell, Loren D.M. Peña, Kelly Schoch, Vandana Shashi, Rebecca C. Spillmann, Jennifer A. Sullivan, Sophie Nicole, Alan H. Beggs, Lauren C. Briere, Cynthia M. Cooper, Laurel A. Donnell‐Fink, Elizabeth L. Krieg, Joel B. Krier, Sharyn A. Lincoln, Joseph Loscalzo, Richard L. Maas, Calum A. MacRae, J. Carl Pallais, Lance H. Rodan, Edwin K. Silverman, Joan M. Stoler, David A. Sweetser, Chris A. Walsh, Cecilia Esteves, Ingrid A. Holm, Isaac S. Kohane, Paul Mazur, Alexa T. McCray, Matthew Might, Rachel Ramoni, Kimberly Splinter, David Bick, Camille L. Birch, Braden Boone, Donna M. Brown

    出版 2017
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  19. 19
    Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

    Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes 由 Maria Delio, Tingwei Guo, Donna M. McDonald‐McGinn, Elaine H. Zackai, Sean Herman, Mark Kaminetzky, Anne Marie Higgins, Karlene Coleman, Carolyn Chow, Maria Jarlbrzkowski, Carrie E. Bearden, Alice Bailey, Anders Vangkilde, Line Olsen, Charlotte Olesen, Flemming Skovby, Thomas Werge, Ludivine Templin, Tiffany Busa, Nicole Philip, Ann Swillen, Joris Vermeesch, Koenraad Devriendt, Maude Schneider, Sophie Dahoun, Stéphan Eliez, Kelly Schoch, Stephen R. Hooper, Vandana Shashi, Joy Samanich, Robert Marion, Thérèse van Amelsvoort, Erik Boot, Petra Klaassen, Sasja N. Duijff, Jacob Vorstman, Tracy Yuen, Candice K. Silversides, Eva W.C. Chow, Anne S. Bassett, Amos Frisch, Abraham Weizman, Doron Gothelf, Maria Niarchou, Marianne B. M. van den Bree, Michael J. Owen, Damián Heine‐Suñer, Jordi Rosell Andreo, Marco Armando, Stefano Vicari, Maria Cristina Digilio, Adam Auton, Wendy R. Kates, Tao Wang, Robert J. Shprintzen, Beverly S. Emanuel, Bernice E. Morrow

    出版 2013
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  20. 20
    Loss of tubulin deglutamylase <scp>CCP</scp> 1 causes infantile‐onset neurodegeneration

    Loss of tubulin deglutamylase <scp>CCP</scp> 1 causes infantile‐onset neurodegeneration 由 Vandana Shashi, Maria M. Magiera, Dennis Klein, Maha S. Zaki, Kelly Schoch, Sabine Rudnik–Schöneborn, Andrew Norman, Osório Lopes Abath Neto, Marina Dusl, Xidi Yuan, Luca Bartesaghi, Patrizia De Marco, Ahmed Alfares, Ronit Marom, Stefan T. Arold, Francisco J. Guzmán‐Vega, Loren Peña, Edward C. Smith, Maja Steinlin, Mohamed OE Babiker, Payam Mohassel, A. Reghan Foley, Sandra Donkervoort, Rupleen Kaur, Partha S. Ghosh, Valentina Stanley, Damir Musaev, Caroline Nava, Cyril Mignot, Boris Keren, Marcello Scala, Elisa Tassano, Paolo Picco, Paola Doneda, Chiara Fiorillo, Mahmoud Y. Issa, Ali H. Alassiri, Ahmed Alahmad, Amanda Gerard, Pengfei Liu, Yaping Yang, Birgit Ertl‐Wagner, Peter G. Kranz, Ingrid M. Wentzensen, Rolf Stucka, Nicholas Stong, Andrew S. Allen, David B. Goldstein, Benedikt Schoser, Kai M. Rösler, Majid Alfadhel, Valeria Capra, Roman Chrast, Tim M. Strom, Erik‐Jan Kamsteeg, Carsten G. Bönnemann, Joseph G. Gleeson, Rudolf Martini, Carsten Janke, Jan Senderek

    出版 2018
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